ABSTRACT
Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern is also reported. Here we described 2 families with members affected by ODDD. In the first family, the c.752G>C (p.S251T) and c.848C>T (p.P283L) heterozygous missense mutations and the c.825C>T (p.T275T) silent mutation were identified in the proband, which showed mild ODDD phenotypes, and in his mother, which displayed hemolytic anemia and thrombocytopenia. In the second family, the patients displayed typical features of ODDD, and Sanger sequencing identified a novel homozygous c.604C>T (p.R202C) missense mutation, whereas the parents carried the mutation. Together, these findings suggest that homozygous mutation in GJA1 induces a more severe ODDD phenotype, though interfamilial phenotype variability was observed, whereas compound heterozygous mutations in GJA1 cause a mild phenotype.
Subject(s)
Craniofacial Abnormalities , Tooth Abnormalities , Humans , Connexin 43/genetics , Craniofacial Abnormalities/genetics , Mutation , Tooth Abnormalities/geneticsABSTRACT
Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.
Subject(s)
Anemia, Sickle Cell/complications , Dental Pulp Diseases/etiology , Needs Assessment/statistics & numerical data , Root Canal Therapy/statistics & numerical data , Adolescent , Adult , Anemia, Sickle Cell/blood , Anemia, Sickle Cell/drug therapy , Antisickling Agents/therapeutic use , Blood Transfusion/statistics & numerical data , Brazil , Child , Child, Preschool , Cross-Sectional Studies , Dental Pulp Diseases/therapy , Female , Folic Acid/therapeutic use , Humans , Hydroxyurea/therapeutic use , Leukocyte Count , Male , Middle Aged , Serologic Tests , Splenectomy , Vitamin B Complex/therapeutic use , Young AdultABSTRACT
Abstract Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals.